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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18644

FusionGeneSummary for KIAA1033_VPS41

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1033_VPS41
Fusion gene ID: 18644
HgeneTgene
Gene symbol

KIAA1033

VPS41

Gene ID

23325

27072

Gene nameWASH complex subunit 4VPS41, HOPS complex subunit
SynonymsKIAA1033|MRT43|SWIPHVPS41|HVSP41|hVps41p
Cytomap

12q23.3

7p14.1

Type of geneprotein-codingprotein-coding
DescriptionWASH complex subunit 4WASH complex subunit 7WASH complex subunit SWIPstrumpellin and WASH-interacting proteinvacuolar protein sorting-associated protein 41 homologS53vacuolar assembly protein 41vacuolar protein sorting 41 homolog
Modification date2018052320180523
UniProtAcc

P49754

Ensembl transtripts involved in fusion geneENST00000332180, ENST00000547171, 
ENST00000310301, ENST00000395969, 
ENST00000466017, 
Fusion gene scores* DoF score5 X 5 X 5=1251 X 1 X 1=1
# samples 62
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/1*10)=4.32192809488736
Context

PubMed: KIAA1033 [Title/Abstract] AND VPS41 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI093764KIAA1033chr12

105560683

-VPS41chr7

38829401

+
ChiTaRS3.1AI332438KIAA1033chr12

105560683

-VPS41chr7

38829401

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000332180ENST00000310301KIAA1033chr12

105560683

-VPS41chr7

38829401

+
5CDS-intronENST00000332180ENST00000395969KIAA1033chr12

105560683

-VPS41chr7

38829401

+
5CDS-intronENST00000332180ENST00000466017KIAA1033chr12

105560683

-VPS41chr7

38829401

+
intron-intronENST00000547171ENST00000310301KIAA1033chr12

105560683

-VPS41chr7

38829401

+
intron-intronENST00000547171ENST00000395969KIAA1033chr12

105560683

-VPS41chr7

38829401

+
intron-intronENST00000547171ENST00000466017KIAA1033chr12

105560683

-VPS41chr7

38829401

+

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FusionProtFeatures for KIAA1033_VPS41


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1033

VPS41

P49754

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Plays a role in vesicle-mediated protein trafficking tolysosomal compartments including the endocytic membrane transportand autophagic pathways. Believed to act in part as a corecomponent of the putative HOPS endosomal tethering complex isproposed to be involved in the Rab5-to-Rab7 endosome conversionprobably implicating MON1A/B, and via binding SNAREs and SNAREcomplexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to berecruited to Rab7 on the late endosomal membrane and to regulatelate endocytic, phagocytic and autophagic traffic towardslysosomes (PubMed:23351085). Involved in homotypic vesicle fusionsbetween late endosomes and in heterotypic fusions between lateendosomes and lysosomes implicated in degradation of endocytosedcargo (PubMed:9159129, PubMed:23167963, PubMed:25445562,PubMed:25908847). Required for fusion of autophagosomes withlysosomes (PubMed:25783203). May link the HOPS complex toendosomal Rab7 via its association with RILP and to lysosomalmembranes via its association with ARL8B, suggesting that theseinteractions may bring the compartments to close proximity forfusion (PubMed:25445562, PubMed:25908847). Involved in the directtrans-Golgi network to late endosomes transport of lysosomalmembrane proteins independently of HOPS (PubMed:23322049).Involved in sorting to the regulated secretory pathway presumablyimplicating the AP-3 adaptor complex (By similarity). May play arole in HOPS-independent function in the regulated secretorypathway (PubMed:24210660). {ECO:0000250|UniProtKB:D3ZVH6,ECO:0000269|PubMed:23167963, ECO:0000269|PubMed:23322049,ECO:0000269|PubMed:25445562, ECO:0000269|PubMed:25783203,ECO:0000269|PubMed:25908847, ECO:0000269|PubMed:9159129,ECO:0000305|PubMed:23167963, ECO:0000305|PubMed:23351085,ECO:0000305|PubMed:24210660, ECO:0000305|PubMed:25445562}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for KIAA1033_VPS41


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KIAA1033_VPS41


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KIAA1033_VPS41


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KIAA1033_VPS41


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource